The Benefits of Prenatal Testing

Updated: March 23, 2017

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From NIPT to amniocentesis, most prenatal testing is an optional part of your pregnancy care plan — but it’s one that’s well worth your consideration. Here’s why.

If you’re nearing the end of your first trimester, your doctor has likely already mentioned prenatal testing. And if you’re like most new parents, you might be wondering what it’s all about — and whether it’s for you. While most pregnant women receive high-level screens for some chromosomal abnormalities with their first trimester bloodwork, your doctor may suggest more specific screenings — including noninvasive prenatal testing (NIPT) and nuchal translucency (NT) — toward the end of your first trimester, especially if you’re considered high-risk (you’re 35 or over or have a family history of genetic birth defects). These tests don’t look for every possible disorder, though they do help identify the most common ones.

The decision to get tested is totally up to you, so talk to your doctor about your options. In the meantime, here are a few advantages of prenatal screenings to consider:

You may feel more relaxed if you’re informed

In the vast majority of cases, prenatal testing will tell you that your baby is almost certainly developing normally, and that peace of mind is priceless. Luckily, the latest testing is more accurate than ever — so while a false positive result can happen, it’s increasingly less likely. Keep in mind: a positive result on a prenatal screening still doesn’t mean your baby definitely has a specific condition (prenatal screenings can’t diagnose a condition; they only tell you your baby’s likelihood or risk of having it). If you test positive, your doctor will discuss best next steps, which usually involve meeting with a genetic counselor and opting for invasive prenatal tests like amniocentesis or chorionic villus sampling that can diagnose the condition definitively.

You can arrange for procedures during & immediately after pregnancy

If an abnormality is detected, there are benefits to finding that out in advance of your baby’s birthday, too. Knowing before you go into labor can be a big advantage: In some cases, you can take action. If your doctor finds a serious heart condition or spina bifida, for example, you may be able to opt for a pre-birth procedure to correct it, if necessary, rather than waiting until after your baby is born. Or, a specialist can be on hand soon after you deliver to help. All of which may go a long way toward improving the prognosis for your little one as well as his or her quality of life.

You put time on your side

Knowing you’re expecting a child with special needs gives you time to prepare — both emotionally and practically. You can:

Get informed. Talk to genetic counselors and doctors specializing in your child’s condition and ask where you can get more information. By researching the condition now, you and your partner will better understand it and feel better prepared for your child’s arrival.

Seek out counseling and support groups. A condition-specific support group of other parents in the same situation provides community and answers. You can find one at a hospital or even online that can help you to realistically plan a course of action. The 22Q Foundation, for example, helps inform and support families with a child born with the 22q microdeletion, while the National Down Syndrome Society links parents to local support groups.

Give birth at the right facility. Depending on your child’s condition, you may want to arrange to give birth at a specialized hospital. What’s more, many of these hospitals that cater to high-risk births already have support groups in their community outreach programs.

Arrange special care for your child. Lining up a pediatrician with specialized training while you’re still pregnant guarantees care specific to your little one’s condition from the day he arrives.

You can treat a condition that doctors might not otherwise detect at birth

Some conditions aren’t obvious at birth or even months later. Without screening, your child could have symptoms that take longer to pinpoint and treat. With prenatal screenings, you'll discover these conditions early, so your child can receive treatment from the moment she’s born — which can sometimes help prevent symptoms. For example, a child with the chromosomal abnormality 22q could have difficulty maintaining calcium or have immune system deficiencies; by knowing about the condition at birth, doctors can immediately begin monitoring your child’s calcium levels and avoid giving her vaccines (which can be deadly).

Parenthood is always a journey into the unknown, but prenatal testing allows for a little more control and reassurance. Though it’s very likely your baby will be born healthy and normal, modern technology can help you to make the choices that are best for you and your family.

From the What to Expect editorial team and Heidi Murkoff, author of What to Expect When You're Expecting. Health information on this site is based on peer-reviewed medical journals and highly respected health organizations and institutions including ACOG (American College of Obstetricians and Gynecologists), CDC (Centers for Disease Control and Prevention) and AAP (American Academy of Pediatrics), as well as the What to Expect books by Heidi Murkoff.